|
Case ID: 340 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 12 to 15 | ||||
| FVII:Ag% | 49.5 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | James et al 1997 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||
The details of the variants found in this patient are listed below
| Variant ID | No. of Cases | MAF* | Genotype | Type | Effect | Location in gene | Mutation (cDNA) | Sequence Context | Amino Acid | Protein Change | Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | |||||||||||
| 105 | 1 | 8.5E-6 | Heterozygous | Point | Missense | Exon 9 | c.1165T>C | TGT>CGT | 389 | 329 | p.Cys389Arg | Serine Protease |